(Q48370935)

11 February 2018

title

Hereditary spastic paraplegia caused by a mutation in the VCP gene (English)

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11 February 2018

hereditary spastic paraplegia

main subject

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Susanne T de Bot

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11 February 2018

Helenius J Schelhaas

series ordinal

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11 February 2018

Erik-Jan Kamsteeg

series ordinal

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11 February 2018

Bart P C van de Warrenburg

series ordinal

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11 February 2018

language of work or name

English

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publication date

18 September 2012

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11 February 2018

published in

Brain

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11 February 2018

volume

135

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11 February 2018

issue

Pt 12

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11 February 2018

page(s)

e223; author reply e224

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11 February 2018

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex

21 January 2018

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An evaluation of neurophysiological criteria used in the diagnosis of motor neuron disease.

21 January 2018

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A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

21 January 2018

1 reference

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An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Valosin-containing protein gene mutations: clinical and neuropathologic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Pathological consequences of VCP mutations on human striated muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

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Roles of VCP in human neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS201

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS201

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11 February 2018

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11 February 2018